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Table 2 Pathogenic and likely-pathogenic variants

From: Genetic analysis using targeted next-generation sequencing of sporadic Chinese patients with idiopathic dilated cardiomyopathy

Patient ID Gene Chromosomal location (GRCh37) Nucleotide change Amino acid change Ref sequence
Protein region
Mutation type Allele frequency ACMG criteria/pathogenicity References
1 TTN Chr2:179,444,906–179,444,907 c.62184_62185delCT p. Asp20728fs NM_001256850.1:
exon268,
A-band
Frameshift (truncating) PVS + PM2;
LP
None
5 TTN Chr2:179,486,443 c.40185delT p.Asn13395fs*11 NM_001256850.1:
exon195,
I-band
Frameshift (truncating) PVS + PM2;
LP
None
7 TTN Chr2:179,425,091 c.80845C > T p.Arg26949* NM_001256850.1:
exon276,
A-band
Nonsense (truncating) 8E-06 PVS + PM2;
LP
rs748689777
9 RBM20 Chr10:112,572,067 c.1912C > T p.Pro638Ser NM_001134363
exon9
Missense PM1 + PM2 + PM5 + PM6 + PP3;
LP
None
10 TTN Chr2:179,486,346 c.40282G > T p.Glu13428* NM_001256850.1:
exon195;
I-band
Nonsense (truncating) PVS + PM2;
LP
None
15 TTN Chr2:179,470,153 c.48946C > T p.Gln16316* NM_001256850.1:
exon229,
A-band
Nonsense (truncating) PVS + PM2;
LP
None
18 TTN Chr2:179,466,820 c.50255delG p.Gly16752Ala fs*30 NM_001256850.1 exon234, A-band Frameshift (truncating) PVS + PM2;
LP
None
22 FLNC Chr7:128,483,501 c.2681delC p.Lys895Arg fs*27 NM_001127487
exon18
Frameshift (truncating) PVS + PM2;
LP
None
23 TNNT2 Chr1:201,331,099–201,331,101 c.650_652delAGA p.Lys217del NM_000364
exon13
Deletion PS3 + PM1 + PM2 + PM4;
P
rs45578238
24 TTN Chr2:179,425,848–179,425,851 c.80085_80088delTAGT p.Glu26697His fs*9 NM_001256850.1 exon276, A-band Frameshift (truncating) PVS + PM2;
LP
None
  1. LP, likely pathogenic; P, pathogenic